Linked Data
ClinVar Variation Id:
2727425
ClinVar RCV Id:
RCV003511249
dbSNP Id:
rs371686514
ExAC:
1:227075859 G / C
gnomAD v2:
1-227075859-G-C
gnomAD v4:
1-226888158-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226888158G>C , CM000663.2:g.226888158G>C | GRCh38 |
| NC_000001.10:g.227075859G>C , CM000663.1:g.227075859G>C | GRCh37 |
| NC_000001.9:g.225142482G>C | NCBI36 |
| NG_007381.1:g.22587G>C | |
| NG_007381.2:g.22975G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366779.6:c.566G>C | ENSP00000355741.2:p.Gly189Ala | |
| ENST00000366782.6:c.566G>C | ENSP00000355746.2:p.Gly189Ala | |
| ENST00000366783.8:c.566G>C MANE Select | ENSP00000355747.3:p.Gly189Ala | |
| ENST00000524196.6:c.566G>C | ENSP00000429036.2:p.Gly189Ala | |
| ENST00000626989.3:c.566G>C | ENSP00000486498.2:p.Gly189Ala | |
| ENST00000676467.1:c.*396G>C | ENSP00000504294.1:n.*396G>C | |
| ENST00000676747.1:c.566G>C | ENSP00000503244.1:p.Gly189Ala | |
| ENST00000676840.1:c.566G>C | ENSP00000504318.1:p.Gly189Ala | |
| ENST00000676884.1:c.566G>C | ENSP00000503200.1:p.Gly189Ala | |
| ENST00000676888.1:c.566G>C | ENSP00000504483.1:p.Gly189Ala | |
| ENST00000676907.1:c.*145G>C | ENSP00000504410.1:n.*145G>C | |
| ENST00000676945.1:c.566G>C | ENSP00000504433.1:p.Gly189Ala | |
| ENST00000677065.1:n.1127G>C | ||
| ENST00000677414.1:c.566G>C | ENSP00000503116.1:p.Gly189Ala | |
| ENST00000677529.1:n.1004G>C | ||
| ENST00000677596.1:c.*473G>C | ENSP00000503618.1:n.*473G>C | |
| ENST00000677599.1:c.566G>C | ENSP00000503673.1:p.Gly189Ala | |
| ENST00000677748.1:n.1004G>C | ||
| ENST00000677880.1:c.134G>C | ENSP00000503121.1:p.Gly45Ala | |
| ENST00000678021.1:c.*189G>C | ENSP00000504674.1:n.*189G>C | |
| ENST00000678233.1:c.566G>C | ENSP00000504728.1:p.Gly189Ala | |
| ENST00000678320.1:c.566G>C | ENSP00000503680.1:p.Gly189Ala | |
| ENST00000678655.1:c.566G>C | ENSP00000504230.1:p.Gly189Ala | |
| ENST00000678706.1:c.566G>C | ENSP00000503659.1:p.Gly189Ala | |
| ENST00000678776.1:c.*396G>C | ENSP00000504624.1:n.*396G>C | |
| ENST00000678784.1:c.566G>C | ENSP00000504652.1:p.Gly189Ala | |
| ENST00000678820.1:c.566G>C | ENSP00000504138.1:p.Gly189Ala | |
| ENST00000678835.1:c.566G>C | ENSP00000504343.1:p.Gly189Ala | |
| ENST00000679088.1:c.566G>C | ENSP00000504727.1:p.Gly189Ala | |
| ENST00000679098.1:c.566G>C | ENSP00000504303.1:p.Gly189Ala | |
| ENST00000366782.5:c.665G>C | ENSP00000355746.1:p.Gly222Ala | |
| ENST00000366783.7:c.566G>C | ENSP00000355747.3:p.Gly189Ala | |
| ENST00000422240.6:c.566G>C | ENSP00000403737.2:p.Gly189Ala | |
| ENST00000460775.5:c.47G>C | ENSP00000427912.1:p.Gly16Ala | |
| ENST00000472139.2:c.134G>C | ENSP00000427806.1:p.Gly45Ala | |
| ENST00000626989.2:c.665G>C | ENSP00000486498.1:p.Gly222Ala | |
| NM_000447.2:c.566G>C | NP_000438.2:p.Gly189Ala | |
| NM_012486.2:c.566G>C | NP_036618.2:p.Gly189Ala | |
| XM_005273199.2:c.566G>C | XP_005273256.1:p.Gly189Ala | |
| XM_011544236.1:c.134G>C | XP_011542538.1:p.Gly45Ala | |
| XR_949149.1:n.993G>C | ||
| XR_949150.1:n.993G>C | ||
| XM_005273199.4:c.566G>C | XP_005273256.1:p.Gly189Ala | |
| XM_017001835.1:c.566G>C | XP_016857324.1:p.Gly189Ala | |
| XM_017001836.1:c.566G>C | XP_016857325.1:p.Gly189Ala | |
| XR_001737316.2:n.971G>C | ||
| XR_001737317.2:n.971G>C | ||
| XR_001737318.2:n.971G>C | ||
| XR_001737319.1:n.1314G>C | ||
| XR_001737320.1:n.1314G>C | ||
| XR_001737321.1:n.806G>C | ||
| XR_949149.2:n.971G>C | ||
| XR_949150.3:n.971G>C | ||
| NM_000447.3:c.566G>C MANE Select | NP_000438.2:p.Gly189Ala | |
| NM_012486.3:c.566G>C | NP_036618.2:p.Gly189Ala |